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Genes|June 27, 2024
A Case of Non-Syndromic Congenital Cataracts Caused by a Novel <i>MAF</i> Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature ReviewSharon H Zhao, Kai Lee Yap, Valerie Allegretti, et al.
Ophthalmic Genetics|May 6, 2026
Evaluating gene-disease relationship strength in crystallin genes in association with pediatric cataractsAlexander Ing, Allison Goetsch Weisman, Andy Drackley, et al.
Genes|August 28, 2025
<i>GPR143</i>-Associated Ocular Albinism in a Hispanic Family and Review of the LiteratureAnushree Aneja, Brenda L Bohnsack, Valerie Allegretti, et al.
Genes|May 4, 2026
A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature ReviewMax Chauhan, Kaersti L Rickels, Sudhi P Kurup, et al.
Cornea|July 1, 2025
Tectonic Corneal Transplant in the Management of Congenital Anterior StaphylomaRita Rodrigues, Hannah Scanga, Priya Potluri, et al.
Acta Ophthalmologica|May 15, 2025
Laser prophylaxis for retinal detachment in Stickler syndrome: A systematic review and meta-analysisDavid A Camp, Saaquib R Bakhsh, Ali Torkashvand, et al.
Journal of Medical Genetics|January 26, 2021
<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activationLev Prasov, Brenda L Bohnsack, Antonette S El Husny, et al.
Molecular Genetics & Genomic Medicine|February 12, 2022
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndromeJessica Duis, Mark Nespeca, Jane Summers, et al.
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